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European Journal of Human Genetics : EJHG|April 7, 2021
Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasiaShereen G Ghosh, Martin W Breuss, Zinayida Schlachetzki, et al.
Nature Communications|July 9, 2020
Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repairHana Hanzlikova, Evgeniia Prokhorova, Katerina Krejcikova, et al.
Genetics|April 22, 2018
Regulation of Cell-to-Cell Communication and Cell Wall Integrity by a Network of MAP Kinase Pathways and Transcription Factors in Neurospora crassaMonika S Fischer, Vincent W Wu, Ji E Lee, et al.
American Journal of Medical Genetics. Part A|February 26, 2004
Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromesJoseph G Gleeson, Lesley C Keeler, Melissa A Parisi, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|October 30, 2020
A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorderMaha S Zaki, Mahmoud Y Issa, Manal M Thomas, et al.
Nature Medicine|November 3, 2015
An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical developmentSeung Tae Baek, Brett Copeland, Eun-Jin Yun, et al.
Retina (Philadelphia, Pa.)|November 19, 2013
Extramacular drainage of subretinal fluid during vitrectomy for macular hole retinal detachment in high myopiaHye S Jeon, Ik S Byon, Sung W Park, et al.
Journal of Movement Disorders|May 29, 2014
Cognitive impairments in multiple system atrophy of the cerebellar typeHyun J Hong, Sook Keun Song, Phil Hyu Lee, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 27, 2013
CCDC41 is required for ciliary vesicle docking to the mother centrioleKwangsic Joo, Chang Gun Kim, Mi-Sun Lee, et al.
American Journal of Human Genetics|October 7, 2004
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyriaTracy Dixon-Salazar, Jennifer L Silhavy, Sarah E Marsh, et al.
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